Total 48 pathogenic variants reported for Familial partial lipodystrophy

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_170707.4(LMNA):c.178C>G (p.Arg60Gly)	SNV Germline	Chr1:156115096	Pathogenic	Familial partial lipodystrophy, Dunnigan type Dilated cardiomyopathy 1A Condition: not provided	No Assertion Criteria Provided	CA017722	rs_28928900	2 SubmittersRCV000015567 RCV000015566 RCV000057359
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)	SNV Germline/somatic	Chr1:156137204	Pathogenic	Emery-Dreifuss muscular dystrophy 2, autosomal dominant Familial partial lipodystrophy, Dunnigan type Charcot-Marie-Tooth disease type 2 Condition: not provided Primary dilated cardiomyopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA017498	rs_57520892	6 SubmittersRCV000015569 RCV000015570 RCV000700159 RCV000057327 RCV001375641 RCV004018633
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)	SNV Germline	Chr1:156136985	Conflicting classifications of pathogenicity	Familial partial lipodystrophy, Dunnigan type Laminopathy Condition: not provided Emery-Dreifuss muscular dystrophy 3, autosomal recessive Charcot-Marie-Tooth disease type 2 Monogenic diabetes 11 conditions Cardiomyopathy Dilated cardiomyopathy 1A Cardiovascular phenotype LMNA-related disorder	Criteria Provided Conflicting Classifications	CA014814	rs_11575937	17 SubmittersRCV000015575 RCV000041318 RCV000057299 RCV000190399 RCV000459624 RCV000754814 RCV000763258 RCV001179839 RCV001822996 RCV002390111 RCV004532361
NM_170707.4(LMNA):c.398G>T (p.Arg133Leu)	SNV Germline	Chr1:156130658	Pathogenic	Familial partial lipodystrophy, Dunnigan type Hutchinson-Gilford progeria syndrome, childhood-onset Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Single Submitter	CA018044	rs_60864230	3 SubmittersRCV000015577 RCV000015578 RCV000057399 RCV001387326
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)	SNV Germline	Chr1:156136984	Pathogenic	Familial partial lipodystrophy, Dunnigan type Condition: not provided Charcot-Marie-Tooth disease Familial partial lipodystrophy Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype 11 conditions LMNA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA017258	rs_57920071	11 SubmittersRCV000015579 RCV000057298 RCV001174239 RCV001248961 RCV001235764 RCV002390112 RCV002482872 RCV004532362
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp)	SNV Germline	Chr1:156136934	Pathogenic/Likely pathogenic	Familial partial lipodystrophy, Dunnigan type Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA017164	rs_61282106	4 SubmittersRCV000015584 RCV000057287 RCV001851878
NM_170707.4(LMNA):c.1745G>A (p.Arg582His)	SNV Germline	Chr1:156138534	Conflicting classifications of pathogenicity	Familial partial lipodystrophy, Dunnigan type Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy Cardiovascular phenotype LMNA-related disorder Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA020309	rs_57830985	7 SubmittersRCV000015585 RCV000057353 RCV001068657 RCV001804734 RCV002399327 RCV004532363 RCV003996099
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)	SNV Germline	Chr1:156135268	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2B1 Condition: not provided Charcot-Marie-Tooth disease type 2 Hutchinson-Gilford syndrome Autosomal recessive axonal hereditary motor and sensory neuropathy Cardiomyopathy Familial partial lipodystrophy, Dunnigan type Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA018809	rs_59885338	17 SubmittersRCV000015590 RCV000057479 RCV000653885 RCV000986429 RCV000826146 RCV001176301 RCV002467495 RCV003162253 RCV003996100
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val)	SNV Germline	Chr1:156137210	Conflicting classifications of pathogenicity	Condition: not provided Mandibuloacral dysplasia with type A lipodystrophy Cardiovascular phenotype Familial partial lipodystrophy, Dunnigan type Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Conflicting Classifications	CA017534	rs_60580541	5 SubmittersRCV000057332 RCV000015608 RCV002399329 RCV002467496 RCV003234906
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)	SNV Germline	Chr1:156138507	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1A Mandibuloacral dysplasia with type A lipodystrophy, atypical Familial partial lipodystrophy, Dunnigan type not specified Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Familial partial lipodystrophy Cardiomyopathy Charcot-Marie-Tooth disease type 2B1 Congenital muscular dystrophy due to LMNA mutation	Criteria Provided Conflicting Classifications	CA020299	rs_60890628	20 SubmittersRCV000015612 RCV000015613 RCV000015614 RCV000041329 RCV000057351 RCV000617932 RCV000653881 RCV001248900 RCV001188887 RCV002221478 RCV002509159
NM_170707.4(LMNA):c.688G>A (p.Asp230Asn)	SNV Germline	Chr1:156134853	Pathogenic	Familial partial lipodystrophy, Dunnigan type Condition: not provided	No Assertion Criteria Provided	CA018460	rs_61214927	2 SubmittersRCV000015615 RCV000057443
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys)	SNV Germline	Chr1:156136251	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2 Primary dilated cardiomyopathy Cardiomyopathy Cardiovascular phenotype Familial partial lipodystrophy, Dunnigan type Condition: not provided	Criteria Provided Conflicting Classifications	CA016847	rs_58672172	9 SubmittersRCV001174241 RCV000653937 RCV001257937 RCV001188431 RCV002336085 RCV000015616 RCV000057255
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)	SNV Germline	Chr1:156138719	Conflicting classifications of pathogenicity	Variant of unknown significance not specified Charcot-Marie-Tooth disease Condition: not provided Primary dilated cardiomyopathy Cardiovascular phenotype Dilated cardiomyopathy 1A Cardiomyopathy Charcot-Marie-Tooth disease type 2 Monogenic diabetes Familial partial lipodystrophy, Dunnigan type 11 conditions LMNA-related disorder	Criteria Provided Conflicting Classifications	CA014882	rs_142000963	25 SubmittersRCV000015626 RCV000041340 RCV000144868 RCV000057374 RCV000148602 RCV000245284 RCV000755679 RCV000771143 RCV001084244 RCV001174411 RCV002467497 RCV003224100 RCV004528114
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)	SNV Germline	Chr1:156137190	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Dilated cardiomyopathy 1A Hutchinson-Gilford syndrome Emery-Dreifuss muscular dystrophy Limb-girdle muscular dystrophy, recessive Familial partial lipodystrophy, Dunnigan type Mandibuloacral dysplasia with type A lipodystrophy Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Lethal tight skin contracture syndrome Congenital muscular dystrophy due to LMNA mutation Cardiomyopathy Charcot-Marie-Tooth disease type 2B1 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Condition: not provided Charcot-Marie-Tooth disease	Criteria Provided Conflicting Classifications	CA017459	rs_149339264	17 SubmittersRCV000041322 RCV000242680 RCV000233927 RCV000262946 RCV000285909 RCV000289458 RCV000337260 RCV000320484 RCV000340752 RCV000377490 RCV000399953 RCV000380292 RCV000777760 RCV001093764 RCV001098994 RCV001310873 RCV001172631
NM_170707.4(LMNA):c.1751G>A (p.Arg584His)	SNV Germline	Chr1:156138540	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy 11 conditions Familial partial lipodystrophy, Dunnigan type Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA020327	rs_56657623	10 SubmittersRCV000041330 RCV000057355 RCV001065506 RCV001184222 RCV002504919 RCV002467559 RCV003162351
NM_170707.4(LMNA):c.357C>T (p.Arg119=)	SNV Germline	Chr1:156130617	Conflicting classifications of pathogenicity	not specified Condition: not provided Emery-Dreifuss muscular dystrophy Primary dilated cardiomyopathy Cardiovascular phenotype Cardiomyopathy Familial partial lipodystrophy, Dunnigan type Charcot-Marie-Tooth disease type 2B1 Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Charcot-Marie-Tooth disease type 2 Lethal tight skin contracture syndrome Emery-Dreifuss muscular dystrophy 2, autosomal dominant Hutchinson-Gilford syndrome Mandibuloacral dysplasia with type A lipodystrophy Dilated cardiomyopathy 1A Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease LMNA-related disorder	Criteria Provided Conflicting Classifications	CA014926	rs_41313880	25 SubmittersRCV000041345 RCV000057395 RCV000148598 RCV000211467 RCV000249770 RCV000768710 RCV001096443 RCV001101880 RCV001101881 RCV001081311 RCV001096444 RCV001096445 RCV001096446 RCV001096447 RCV001101878 RCV001101879 RCV001173420 RCV004528231
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)	SNV Germline	Chr1:156115268	Conflicting classifications of pathogenicity	not specified Condition: not provided Charcot-Marie-Tooth disease type 2 Hypertrophic cardiomyopathy Emery-Dreifuss muscular dystrophy 2, autosomal dominant Lethal tight skin contracture syndrome Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Charcot-Marie-Tooth disease type 2B1 Dilated cardiomyopathy 1A Mandibuloacral dysplasia with type A lipodystrophy Congenital muscular dystrophy due to LMNA mutation Cardiomyopathy Primary dilated cardiomyopathy Cardiovascular phenotype Familial partial lipodystrophy, Dunnigan type	Criteria Provided Conflicting Classifications	CA017949	rs_397517901	14 SubmittersRCV000041346 RCV000324940 RCV000653882 RCV000853426 RCV001007778 RCV001098095 RCV001098092 RCV001098093 RCV001099881 RCV001099882 RCV001098094 RCV001182267 RCV003996462 RCV002336155 RCV004558292
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)	SNV Germline	Chr1:156135271	Conflicting classifications of pathogenicity	not specified Familial partial lipodystrophy, Dunnigan type Cardiovascular phenotype Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy Charcot-Marie-Tooth disease	Criteria Provided Conflicting Classifications	CA014949	rs_150924946	11 SubmittersRCV000041378 RCV000148604 RCV000619864 RCV000726532 RCV001086902 RCV000777745 RCV001174244
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)	SNV Germline	Chr1:156136009	Conflicting classifications of pathogenicity	Condition: not provided Familial partial lipodystrophy, Dunnigan type Charcot-Marie-Tooth disease type 2 6 conditions Monogenic diabetes 11 conditions Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA016479	rs_267607555	10 SubmittersRCV000057218 RCV000500548 RCV000653911 RCV000845011 RCV000754811 RCV002504959 RCV003996495
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)	SNV Germline	Chr1:156136113	Conflicting classifications of pathogenicity	Condition: not provided Dilated Cardiomyopathy, Dominant Hutchinson-Gilford syndrome not specified Familial partial lipodystrophy, Dunnigan type Mandibuloacral dysplasia with type A lipodystrophy Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Lethal tight skin contracture syndrome Congenital muscular dystrophy due to LMNA mutation Dilated cardiomyopathy 1A Emery-Dreifuss muscular dystrophy Limb-girdle muscular dystrophy, recessive Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype Cardiomyopathy Charcot-Marie-Tooth disease type 2B1 Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Conflicting Classifications	CA016698	rs_267607603	9 SubmittersRCV000057240 RCV000259414 RCV000263024 RCV000259097 RCV000289312 RCV000293812 RCV000298159 RCV000324542 RCV000327855 RCV000355460 RCV000377531 RCV000384768 RCV000536971 RCV000619516 RCV000776145 RCV001093854 RCV001098597
NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys)	SNV Germline	Chr1:156136371	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiomyopathy Cardiovascular phenotype Familial partial lipodystrophy, Dunnigan type Primary dilated cardiomyopathy LMNA-related disorder	Criteria Provided Conflicting Classifications	CA016991	rs_62636506	10 SubmittersRCV000057267 RCV001225469 RCV001182564 RCV002381365 RCV003326119 RCV003996503 RCV004537256
NM_170707.4(LMNA):c.1458G>T (p.Lys486Asn)	SNV Germline	Chr1:156136998	Pathogenic	Condition: not provided Familial partial lipodystrophy, Dunnigan type	Criteria Provided Single Submitter	CA017283	rs_59981161	2 SubmittersRCV000057302 RCV000193901
NM_170707.4(LMNA):c.1488+5G>C	SNV Germline	Chr1:156137033	Conflicting classifications of pathogenicity	Familial partial lipodystrophy, Dunnigan type Condition: not provided Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA017326	rs_267607543	4 SubmittersRCV000015610 RCV000057307 RCV003581575
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg)	SNV Germline	Chr1:156137207	Pathogenic/Likely pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Familial partial lipodystrophy, Dunnigan type Abnormality of the musculature Congenital muscular dystrophy due to LMNA mutation	Criteria Provided Multiple Submitters No Conflicts	CA017510	rs_57629361	7 SubmittersRCV000057329 RCV000472329 RCV000499741 RCV001814041 RCV003483458
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu)	SNV Germline	Chr1:156138537	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Charcot-Marie-Tooth disease type 2 Cardiomyopathy 11 conditions Familial partial lipodystrophy, Dunnigan type Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA020320	rs_59601651	9 SubmittersRCV000057354 RCV000618100 RCV000653858 RCV001182287 RCV002504960 RCV003333022 RCV003996507
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly)	SNV Germline	Chr1:156115102	Pathogenic	Condition: not provided Charcot-Marie-Tooth disease type 2 Familial partial lipodystrophy, Dunnigan type	Criteria Provided Multiple Submitters No Conflicts	CA017741	rs_56793579	5 SubmittersRCV000057365 RCV001051802 RCV000503031
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile)	SNV Germline	Chr1:156114947	Pathogenic/Likely pathogenic	Dilated cardiomyopathy 1A Condition: not provided Inborn genetic diseases Familial partial lipodystrophy, Dunnigan type Lipodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA017867	rs_57077886	6 SubmittersRCV000015599 RCV000057387 RCV000622546 RCV000502816 RCV000755005
NM_170707.4(LMNA):c.686T>C (p.Ile229Thr)	SNV Germline	Chr1:156134851	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2 Cardiomyopathy Familial partial lipodystrophy, Dunnigan type Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA018453	rs_727505357	6 SubmittersRCV000156919 RCV000538272 RCV001525549 RCV003152686 RCV003998328
NM_170707.4(LMNA):c.1488+14C>T	SNV Germline	Chr1:156137042	Conflicting classifications of pathogenicity	not specified Familial partial lipodystrophy, Dunnigan type Mandibuloacral dysplasia with type A lipodystrophy Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease type 2B1 Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy 2, autosomal dominant Dilated cardiomyopathy 1A Hutchinson-Gilford syndrome Lethal tight skin contracture syndrome Charcot-Marie-Tooth disease Condition: not provided Charcot-Marie-Tooth disease type 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA017307	rs_377700689	10 SubmittersRCV000154749 RCV001097151 RCV001098889 RCV001098891 RCV001097148 RCV001097149 RCV001097150 RCV001097152 RCV001098890 RCV001098892 RCV001098893 RCV001173408 RCV001795278 RCV001850119 RCV003162630
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)	SNV Germline	Chr1:156137175	Conflicting classifications of pathogenicity	not specified Charcot-Marie-Tooth disease type 2 Mandibuloacral dysplasia with type A lipodystrophy Limb-girdle muscular dystrophy, recessive Dilated cardiomyopathy 1A Hutchinson-Gilford syndrome Lethal tight skin contracture syndrome Familial partial lipodystrophy, Dunnigan type Emery-Dreifuss muscular dystrophy Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Congenital muscular dystrophy due to LMNA mutation Condition: not provided Cardiovascular phenotype Cardiomyopathy Charcot-Marie-Tooth disease type 2B1 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Charcot-Marie-Tooth disease Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA017421	rs_41314035	20 SubmittersRCV000223139 RCV000231059 RCV000259331 RCV000274426 RCV000309672 RCV000306169 RCV000331994 RCV000363237 RCV000373945 RCV000392082 RCV000392077 RCV000589163 RCV000620476 RCV000771258 RCV001093871 RCV001100975 RCV001172636 RCV003996588
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)	SNV Germline	Chr1:156130658	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Mandibuloacral dysplasia with type A lipodystrophy Lethal tight skin contracture syndrome Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Emery-Dreifuss muscular dystrophy Congenital muscular dystrophy due to LMNA mutation Charcot-Marie-Tooth disease type 2B1 Familial partial lipodystrophy, Dunnigan type Hutchinson-Gilford syndrome Dilated cardiomyopathy 1A Cardiomyopathy Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA018032	rs_60864230	10 SubmittersRCV000182356 RCV000204542 RCV001098184 RCV001098185 RCV001096448 RCV001096449 RCV001098186 RCV001098188 RCV001098187 RCV001098189 RCV001098190 RCV001098191 RCV001191911 RCV002372114 RCV003996714
NM_170707.4(LMNA):c.471G>A (p.Thr157=)	SNV Germline	Chr1:156130731	Conflicting classifications of pathogenicity	not specified Cardiomyopathy Condition: not provided Charcot-Marie-Tooth disease type 2 Mandibuloacral dysplasia with type A lipodystrophy Familial partial lipodystrophy, Dunnigan type Congenital muscular dystrophy due to LMNA mutation Hutchinson-Gilford syndrome Dilated cardiomyopathy 1A Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy 2, autosomal dominant Lethal tight skin contracture syndrome Charcot-Marie-Tooth disease type 2B1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA018129	rs_150645079	15 SubmittersRCV000182358 RCV000778038 RCV000727266 RCV001081191 RCV001099967 RCV001099969 RCV001101973 RCV001099963 RCV001099964 RCV001099965 RCV001101971 RCV001099966 RCV001099968 RCV001101972 RCV002336452
NM_170707.4(LMNA):c.937-8C>A	SNV Germline	Chr1:156135893	Conflicting classifications of pathogenicity	Primary dilated cardiomyopathy Charcot-Marie-Tooth disease type 2 Cardiomyopathy Charcot-Marie-Tooth disease type 2B1 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Mandibuloacral dysplasia with type A lipodystrophy Lethal tight skin contracture syndrome Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Congenital muscular dystrophy due to LMNA mutation Dilated cardiomyopathy 1A Emery-Dreifuss muscular dystrophy Familial partial lipodystrophy, Dunnigan type Hutchinson-Gilford syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA054885	rs_751707982	6 SubmittersRCV000207998 RCV000545586 RCV000777940 RCV001096750 RCV001096752 RCV001098488 RCV001096749 RCV001096751 RCV001098487 RCV001096746 RCV001096747 RCV001096748 RCV001098486 RCV001697242
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)	SNV Germline	Chr1:156137027	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease type 2 11 conditions Hutchinson-Gilford syndrome Familial partial lipodystrophy, Dunnigan type Emery-Dreifuss muscular dystrophy 2, autosomal dominant Dilated cardiomyopathy 1A Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Emery-Dreifuss muscular dystrophy Congenital muscular dystrophy due to LMNA mutation Mandibuloacral dysplasia with type A lipodystrophy Charcot-Marie-Tooth disease type 2B1 Lethal tight skin contracture syndrome Cardiomyopathy Cardiovascular phenotype 11 conditions Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA050321	rs_200466188	15 SubmittersRCV000235878 RCV000653862 RCV000681642 RCV001100889 RCV001100614 RCV001100615 RCV001100616 RCV001100617 RCV001098789 RCV001100613 RCV001100618 RCV001100619 RCV001100620 RCV001180056 RCV002392729 RCV002494678 RCV003998908
NM_170707.4(LMNA):c.1919A>G (p.Asn640Ser)	SNV Germline	Chr1:156138708	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Condition: not provided Familial partial lipodystrophy, Dunnigan type Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA051671	rs_752598065	6 SubmittersRCV000533234 RCV000658526 RCV003335301 RCV003995784
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser)	SNV Germline	Chr1:156115213	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2B1 Limb-girdle muscular dystrophy, recessive Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Dilated cardiomyopathy 1A Mandibuloacral dysplasia with type A lipodystrophy Lethal tight skin contracture syndrome Congenital muscular dystrophy due to LMNA mutation Familial partial lipodystrophy, Dunnigan type Emery-Dreifuss muscular dystrophy Hutchinson-Gilford syndrome Condition: not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA10607825	rs_886045364	5 SubmittersRCV000274541 RCV000281871 RCV000294652 RCV000301985 RCV000337024 RCV000335629 RCV000329877 RCV000342879 RCV000371803 RCV000389042 RCV000497577 RCV001096351 RCV003231436
NM_170707.4(LMNA):c.936+12C>T	SNV Germline	Chr1:156135324	Conflicting classifications of pathogenicity	Dilated Cardiomyopathy, Dominant Familial partial lipodystrophy Hutchinson-Gilford syndrome Emery-Dreifuss muscular dystrophy Limb-girdle muscular dystrophy, recessive Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Charcot-Marie-Tooth disease type 2 Lethal tight skin contracture syndrome Mandibuloacral dysplasia Congenital muscular dystrophy due to LMNA mutation not specified Charcot-Marie-Tooth disease Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA054697	rs_199881992	5 SubmittersRCV000262176 RCV000274234 RCV000277642 RCV000307693 RCV000313011 RCV000316315 RCV000342630 RCV000370046 RCV000373251 RCV000408245 RCV000611471 RCV001172628 RCV003165785
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)	SNV Germline	Chr1:156137028	Conflicting classifications of pathogenicity	Mandibuloacral dysplasia with type A lipodystrophy Hutchinson-Gilford syndrome Emery-Dreifuss muscular dystrophy Familial partial lipodystrophy, Dunnigan type Dilated cardiomyopathy 1A Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Lethal tight skin contracture syndrome Charcot-Marie-Tooth disease type 2 Limb-girdle muscular dystrophy, recessive Congenital muscular dystrophy due to LMNA mutation not specified Condition: not provided Cardiomyopathy Charcot-Marie-Tooth disease type 2B1 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA050383	rs_375516745	8 SubmittersRCV000272434 RCV000279873 RCV000283389 RCV000295329 RCV000329882 RCV000337310 RCV000341138 RCV000364565 RCV000387328 RCV000399235 RCV000424743 RCV000733840 RCV000769730 RCV001093869 RCV001097147 RCV002392823 RCV003995796
NM_170707.4(LMNA):c.514-11C>T	SNV Germline	Chr1:156134392	Conflicting classifications of pathogenicity	Emery-Dreifuss muscular dystrophy Hutchinson-Gilford syndrome Dilated cardiomyopathy 1A Familial partial lipodystrophy, Dunnigan type Charcot-Marie-Tooth disease type 2B1 Congenital muscular dystrophy due to LMNA mutation Limb-girdle muscular dystrophy, recessive Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Lethal tight skin contracture syndrome Mandibuloacral dysplasia with type A lipodystrophy Condition: not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant Charcot-Marie-Tooth disease type 2	Criteria Provided Conflicting Classifications	CA10608308	rs_886045365	3 SubmittersRCV000259634 RCV000271579 RCV000277232 RCV000312526 RCV000319234 RCV000338954 RCV000366122 RCV000372986 RCV000367228 RCV000373949 RCV000828218 RCV001096563 RCV002061154
NM_170707.4(LMNA):c.1698+57G>A	SNV Germline	Chr1:156137800	Conflicting classifications of pathogenicity	Familial partial lipodystrophy, Dunnigan type Congenital muscular dystrophy due to LMNA mutation Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Dilated cardiomyopathy 1A Hutchinson-Gilford syndrome Limb-girdle muscular dystrophy, recessive Lethal tight skin contracture syndrome Emery-Dreifuss muscular dystrophy Charcot-Marie-Tooth disease type 2B1 Mandibuloacral dysplasia with type A lipodystrophy Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Criteria Provided Conflicting Classifications	CA051003	rs_557334569	1 SubmittersRCV000263913 RCV000267234 RCV000278097 RCV000293451 RCV000318957 RCV000322274 RCV000333140 RCV000358640 RCV000361986 RCV000373664 RCV001099085
NM_170707.4(LMNA):c.294G>A (p.Glu98=)	SNV Germline	Chr1:156115212	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2B1 Congenital muscular dystrophy due to LMNA mutation Hutchinson-Gilford syndrome Mandibuloacral dysplasia with type A lipodystrophy Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Familial partial lipodystrophy, Dunnigan type Emery-Dreifuss muscular dystrophy Lethal tight skin contracture syndrome Dilated cardiomyopathy 1A Limb-girdle muscular dystrophy, recessive Condition: not provided Emery-Dreifuss muscular dystrophy 2, autosomal dominant Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA10608333	rs_886045363	4 SubmittersRCV000268830 RCV000268358 RCV000297999 RCV000303772 RCV000304893 RCV000338865 RCV000364211 RCV000358456 RCV000404276 RCV000407235 RCV001718593 RCV001101770 RCV003231435
NM_170707.4(LMNA):c.1324G>A (p.Val442Met)	SNV Germline	Chr1:156136380	Conflicting classifications of pathogenicity	Cardiovascular phenotype Congenital muscular dystrophy due to LMNA mutation Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Mandibuloacral dysplasia with type A lipodystrophy Dilated cardiomyopathy 1A Hutchinson-Gilford syndrome Charcot-Marie-Tooth disease type 2B1 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy Charcot-Marie-Tooth disease type 2 Cardiomyopathy Familial partial lipodystrophy, Dunnigan type Lethal tight skin contracture syndrome Condition: not provided Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA049885	rs_368542816	9 SubmittersRCV000621062 RCV001096941 RCV001096943 RCV001096942 RCV001096944 RCV001096939 RCV001096940 RCV001102354 RCV001102355 RCV000808964 RCV001190252 RCV001096945 RCV001096946 RCV001544605 RCV004002668
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)	SNV Germline	Chr1:156136414	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Congenital muscular dystrophy due to LMNA mutation Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy Charcot-Marie-Tooth disease type 2B1 Lethal tight skin contracture syndrome Familial partial lipodystrophy, Dunnigan type Condition: not provided Dilated cardiomyopathy 1A Mandibuloacral dysplasia with type A lipodystrophy Hutchinson-Gilford syndrome Cardiomyopathy Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications		rs_267607598	6 SubmittersRCV000690888 RCV001097051 RCV001097053 RCV001102456 RCV001097049 RCV001097054 RCV001102454 RCV001102455 RCV001786410 RCV001097050 RCV001097052 RCV001102457 RCV001183072 RCV003999552
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)	SNV Germline	Chr1:156135991	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Lethal tight skin contracture syndrome Mandibuloacral dysplasia with type A lipodystrophy Dilated cardiomyopathy 1A Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy 2, autosomal dominant Hutchinson-Gilford syndrome Congenital muscular dystrophy due to LMNA mutation Familial partial lipodystrophy, Dunnigan type Charcot-Marie-Tooth disease type 2B1 Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Cardiomyopathy Condition: not provided Cardiovascular phenotype 11 conditions Primary dilated cardiomyopathy Charcot-Marie-Tooth disease not specified	Criteria Provided Conflicting Classifications		rs_749784223	10 SubmittersRCV000812997 RCV001096836 RCV001096841 RCV001096835 RCV001096842 RCV001098596 RCV001096837 RCV001096838 RCV001096839 RCV001096840 RCV001102252 RCV001189952 RCV001593004 RCV002381813 RCV002507420 RCV004001748 RCV001172615 RCV001823746
NM_170707.4(LMNA):c.1227A>G (p.Thr409=)	SNV Germline	Chr1:156136283	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease type 2 Mandibuloacral dysplasia with type A lipodystrophy Dilated cardiomyopathy 1A Emery-Dreifuss muscular dystrophy Familial partial lipodystrophy, Dunnigan type Lethal tight skin contracture syndrome Congenital muscular dystrophy due to LMNA mutation Emery-Dreifuss muscular dystrophy 2, autosomal dominant Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Charcot-Marie-Tooth disease type 2B1 Hutchinson-Gilford syndrome Cardiomyopathy not specified Condition: not provided Cardiovascular phenotype Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications		rs_762130433	9 SubmittersRCV000865471 RCV001100368 RCV001100370 RCV001102349 RCV001102351 RCV001100367 RCV001100369 RCV001102348 RCV001102350 RCV001102352 RCV001102353 RCV001191849 RCV001700317 RCV001726349 RCV003307601 RCV004002962
NM_005572.3(LMNA):c.-223C>T	SNV Germline	Chr1:156114696	Conflicting classifications of pathogenicity	Mandibuloacral dysplasia with type A lipodystrophy Congenital muscular dystrophy due to LMNA mutation Dilated cardiomyopathy 1A Emery-Dreifuss muscular dystrophy 2, autosomal dominant Charcot-Marie-Tooth disease type 2B1 Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules Lethal tight skin contracture syndrome Familial partial lipodystrophy, Dunnigan type Hutchinson-Gilford syndrome Emery-Dreifuss muscular dystrophy Condition: not provided	Criteria Provided Conflicting Classifications		rs_188625872	2 SubmittersRCV001099593 RCV001099598 RCV001097799 RCV001097800 RCV001099600 RCV001099599 RCV001099594 RCV001099595 RCV001099596 RCV001099597 RCV001564412
NM_170707.4(LMNA):c.1699-2A>G	SNV Unknown	Chr1:156138486	Likely pathogenic	Familial partial lipodystrophy, Dunnigan type	Criteria Provided Single Submitter		rs_2102901069	1 SubmittersRCV001706860